Materiały źródłowe

• #1 Joint Hypermobility Syndrome: Symptoms, Causes, Diagnosis & Treatments

  https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome

  Joint hypermobility syndrome is a genetic condition that involves extreme flexibility along with pain and other symptoms. […] While theres no cure, symptoms can be managed by keeping your muscles strong and taking medication. […] Your healthcare provider may perform a physical exam to see the range of motion in your joints. They may also order blood tests to check for possible genetic conditions. […] Your healthcare provider may use a test or questionnaire to measure the flexibility of your joints. The Beighton score measures your joint flexibility on a nine-point scale. […] If you scored four or more points and have had pain in four or more joints for at least three months, you may have joint hypermobility syndrome. […] If you answered yes to two or more questions, you may have joint hypermobility syndrome. […] Joint hypermobility syndrome is diagnosed through a physical exam as well as a test or questionnaire on your flexibility.

• #2 Joint Hypermobility Syndrome: Understanding, Diagnosis, and Prolotherapy as a First-Line Treatment

  https://www.alleviatepainclinic.com/blog/unraveling-joint-hypermobility-syndrome-understanding-diagnosis-prolotherapy-as-a-first-line-treatment/

  Joint Hypermobility Syndrome (JHS) is a connective tissue disorder characterized by the excessive flexibility of the joints. […] Diagnosing Joint Hypermobility Syndrome typically involves a combination of clinical evaluation and assessment tools. Healthcare professionals may use the following approaches to diagnose JHS: […] A thorough medical history and physical examination are essential for identifying hypermobile joints and associated symptoms. The Beighton Score, which assesses joint hypermobility in specific body areas, is often used. […] The Beighton Score assesses joint hypermobility at various sites in the body. A score of 4 or more out of 9 is typically considered indicative of joint hypermobility. […] Prolotherapy is emerging as a promising first-line treatment for JHS, offering the potential to improve joint stability, reduce pain, and enhance overall quality of life. […] Early diagnosis, proper management, and the use of innovative treatments like Prolotherapy can significantly improve the quality of life for individuals with JHS.

• #3 Hypermobile Joints (Hypermobility Syndrome): Diagnosis and Treatment

  https://www.nationwidechildrens.org/conditions/hypermobile-joints

  Joint hypermobility syndrome is similar to, yet separate from other connective tissue disorders that share common features. […] Hypermobility syndrome (HMS) is diagnosed using the Beighton score and Brighton criteria. […] The Brighton criteria are listed as major and minor and will not be listed here, however if a patient meets two major criteria, one major and two minor or four minor criteria in the face of a positive clinical exam, and other diagnoses being excluded, they will be diagnosed with HMS.

• #4 What is HSD? – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/what-is-hsd/

  Conditions that must be ruled out for an HSD diagnosis to be given include: The types of Ehlers-Danlos syndrome, especially hEDS, Other heritable connective tissue disorders such as Marfan syndrome, osteogenesis imperfecta, Loeys-Dietz syndrome, Stickler syndrome, skeletal dysplasias, Autoimmune rheumatic connective tissue disorders such as lupus, rheumatoid arthritis, Chromosomal conditions such as Fragile X syndrome, Kabuki syndrome, Down syndrome, Neuromuscular disorders that can cause joints to become unstable, such as multiple sclerosis and myopathies. […] HSD can only be diagnosed when no other cause of a persons symptoms can be found.

• #5 Joint Hypermobility Syndrome: Symptoms, Causes, Diagnosis & Treatments

  https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome

  Joint hypermobility syndrome is a genetic condition that involves extreme flexibility along with pain and other symptoms. […] While theres no cure, symptoms can be managed by keeping your muscles strong and taking medication. […] Your healthcare provider may perform a physical exam to see the range of motion in your joints. They may also order blood tests to check for possible genetic conditions. […] Your healthcare provider may use a test or questionnaire to measure the flexibility of your joints. The Beighton score measures your joint flexibility on a nine-point scale. […] If you scored four or more points and have had pain in four or more joints for at least three months, you may have joint hypermobility syndrome. […] If you answered yes to two or more questions, you may have joint hypermobility syndrome. […] Joint hypermobility syndrome is diagnosed through a physical exam as well as a test or questionnaire on your flexibility.

• #6 Joint hypermobility | Causes, symptoms, treatments

  https://versusarthritis.org/about-arthritis/conditions/joint-hypermobility/

  Your doctor will be able to make a diagnosis of whether you have HSD or hEDS by asking you a series of questions, taking a family history, ruling out other conditions and examining your joints. […] In the examination your doctor will want to check how mobile your joints are and will ask you questions such as while standing can you put your hands flat on the ground with your knees straight? This is to work out how flexible you are. […] Depending on the outcome of these tests you may receive a diagnosis of Hypermobility Spectrum Disorder or EhlersDanlos syndrome.

• #7 Beighton Score: How It’s Used to Measure Joint Hypermobility

  https://my.clevelandclinic.org/health/diagnostics/24169-beighton-score

  Beighton score is a test that detects joint hypermobility syndrome. A positive Beighton score means you likely have joint hypermobility syndrome. The Beighton score is a standard test used to help diagnose joint hypermobility syndrome, a common syndrome. Your healthcare provider tallies up your points. You could have joint hypermobility syndrome if you either: […] Positive results on a Beighton score test mean you likely have joint hypermobility syndrome. The Beighton score itself cant diagnose EDS, Marfan syndrome or osteogenesis imperfecta. Its part of a series of tests to get to the bottom of your symptoms.

• #8 How Do Doctors Assess Joint Hypermobility in EDS? | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/health-insights/how-do-doctors-assess-joint-hypermobility-in-eds/

  A common feature of Ehlers-Danlos syndrome (EDS) — a group of rare inherited conditions that affect connective tissue — is joint hypermobility. […] The most common test to assess joint hypermobility is the Beighton scoring system, which uses a nine-point scale to measure joint hypermobility. […] The doctor then adds up the points to reach a total Beighton score. The original definition of joint hypermobility was scoring a 5 or greater. […] If patients answer ‘yes’ to two or more of the questions, then there is an 85% chance they could have joint hypermobility.

• #9 Joint Hypermobility Syndrome: Symptoms, Causes, Diagnosis & Treatments

  https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome

  Joint hypermobility syndrome is a genetic condition that involves extreme flexibility along with pain and other symptoms. […] While theres no cure, symptoms can be managed by keeping your muscles strong and taking medication. […] Your healthcare provider may perform a physical exam to see the range of motion in your joints. They may also order blood tests to check for possible genetic conditions. […] Your healthcare provider may use a test or questionnaire to measure the flexibility of your joints. The Beighton score measures your joint flexibility on a nine-point scale. […] If you scored four or more points and have had pain in four or more joints for at least three months, you may have joint hypermobility syndrome. […] If you answered yes to two or more questions, you may have joint hypermobility syndrome. […] Joint hypermobility syndrome is diagnosed through a physical exam as well as a test or questionnaire on your flexibility.

• #10 Hypermobility and PoTS | PoTS UK

  https://www.potsuk.org/about-pots/associated-conditions/hypermobility-and-pots/

  The Beighton score is positive when the following points are gained: Children (age 6-16 years old) – 6 or more points, Adults up to age 50 – 5 or more points, Over 50 years – 4 or more points. […] The 5-part hypermobility questionnaire can also be used to identify generalised joint hypermobility. If you answer yes to two or more of the following questions, there is a good chance that you have generalised joint hypermobility. […] See here for diagnostic criteria.

• #11 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  Hypermobile EhlersDanlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score4 or 5/9, the cut off for GJH in adults. […] The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data.

• #12 Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management

  https://www.degruyter.com/document/doi/10.7556/jaoa.2006.106.9.531/html?lang=en

  Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. […] Use of the Brighton criteria facilitates the diagnosis of BJHS. […] The Brighton criteria are used to diagnose BJHS, and laboratory tests are used to distinguish BJHS from other systemic diseases. […] The Brighton criteria were developed to establish diagnostic criteria for BJHS. Using these criteria helps physicians to distinguish BJHS from other connective tissue disorders. […] Diagnosis of BJHS is one of exclusion. For patients with painful or swollen joints, it is important to rule out inflammatory, infectious, and autoimmune causes. […] Benign joint hypermobility syndrome needs to be distinguished from other disorders that share many common features, such as Marfan syndrome, EDS, and osteogenesis imperfecta. Generalized hypermobility is a common feature in all these hereditary connective tissue disorders and many features overlap, but often distinguishing features are present that enable differentiating these disorders.

• #13 Hypermobility Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/doctor/hypermobility-syndrome-pro

  Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterised by joint instability, chronic pain, and minor skin changes. […] Diagnosis is clinical, using the widely accepted Brighton criteria. These combine the Beighton hypermobility score (first developed to quantify joint laxity in Ehlers-Danlos syndrome) with symptoms. There are no confirming genetic or biochemical tests. […] The Beighton hypermobility score is a 9-point scoring system to quantify joint laxity and hypermobility. A higher score equates to higher joint laxity. The threshold for joint laxity in a young adult is 4-6, with scores above 4 correlating well with pain levels in patients diagnosed with benign joint hypermobility syndrome. […] Diagnosis of benign joint hypermobility syndrome requires two major criteria or one major and two minor, in the absence of diagnosed Ehlers-Danlos or Marfan’s syndromes. Two minor criteria are considered enough for diagnosis if there is a clearly affected first-degree relative. […] These accepted diagnostic criteria incorporate the Beighton scoring system, in combination with the presence of persistent symptoms.

• #14 Hypermobility Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/doctor/hypermobility-syndrome-pro

  Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterised by joint instability, chronic pain, and minor skin changes. […] Diagnosis is clinical, using the widely accepted Brighton criteria. These combine the Beighton hypermobility score (first developed to quantify joint laxity in Ehlers-Danlos syndrome) with symptoms. There are no confirming genetic or biochemical tests. […] The Beighton hypermobility score is a 9-point scoring system to quantify joint laxity and hypermobility. A higher score equates to higher joint laxity. The threshold for joint laxity in a young adult is 4-6, with scores above 4 correlating well with pain levels in patients diagnosed with benign joint hypermobility syndrome. […] Diagnosis of benign joint hypermobility syndrome requires two major criteria or one major and two minor, in the absence of diagnosed Ehlers-Danlos or Marfan’s syndromes. Two minor criteria are considered enough for diagnosis if there is a clearly affected first-degree relative. […] These accepted diagnostic criteria incorporate the Beighton scoring system, in combination with the presence of persistent symptoms.

• #15 Benign Joint Hypermobility Syndrome in Children | PM&R KnowledgeNow

  https://now.aapmr.org/benign-joint-hypermobility-syndrome-in-children/

  JHS is diagnosed as a syndrome in which joint hypermobility causes pain or joint dysfunction. […] JHS is a diagnosis of exclusion, and one must rule out inflammatory, infectious, rheumatologic, and hereditary connective tissue disorders (e.g., Marfan, Ehlers Danlos Syndrome [EDS], and osteogenesis imperfecta). […] The Brighton criteria are the most frequently used clinical criteria for diagnosing JHS. […] JHS is diagnosed with the presence of 2 major criteria, 1 major criterion plus 2 minor criteria, 4 minor criteria, or 2 minor criteria with a positive family history of an unequivocally affected first-degree relative with JHS. […] Having a Beighton score of 4 is one of the two major criteria used to diagnose someone with JHS. […] As JHS is a clinical diagnosis and no confirmatory test exists. However, given it is also a diagnosis of exclusion, it is appropriate to rule out inflammatory, infectious, and autoimmune causes of joint swelling and arthralgia.

• #16 Joint Hypermobility Syndrome: Symptoms, Causes, Diagnosis & Treatments

  https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome

  Joint hypermobility syndrome is a genetic condition that involves extreme flexibility along with pain and other symptoms. […] While theres no cure, symptoms can be managed by keeping your muscles strong and taking medication. […] Your healthcare provider may perform a physical exam to see the range of motion in your joints. They may also order blood tests to check for possible genetic conditions. […] Your healthcare provider may use a test or questionnaire to measure the flexibility of your joints. The Beighton score measures your joint flexibility on a nine-point scale. […] If you scored four or more points and have had pain in four or more joints for at least three months, you may have joint hypermobility syndrome. […] If you answered yes to two or more questions, you may have joint hypermobility syndrome. […] Joint hypermobility syndrome is diagnosed through a physical exam as well as a test or questionnaire on your flexibility.

• #17 Hypermobility and PoTS | PoTS UK

  https://www.potsuk.org/about-pots/associated-conditions/hypermobility-and-pots/

  The Beighton score is positive when the following points are gained: Children (age 6-16 years old) – 6 or more points, Adults up to age 50 – 5 or more points, Over 50 years – 4 or more points. […] The 5-part hypermobility questionnaire can also be used to identify generalised joint hypermobility. If you answer yes to two or more of the following questions, there is a good chance that you have generalised joint hypermobility. […] See here for diagnostic criteria.

• #18 How Do Doctors Assess Joint Hypermobility in EDS? | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/health-insights/how-do-doctors-assess-joint-hypermobility-in-eds/

  A common feature of Ehlers-Danlos syndrome (EDS) — a group of rare inherited conditions that affect connective tissue — is joint hypermobility. […] The most common test to assess joint hypermobility is the Beighton scoring system, which uses a nine-point scale to measure joint hypermobility. […] The doctor then adds up the points to reach a total Beighton score. The original definition of joint hypermobility was scoring a 5 or greater. […] If patients answer ‘yes’ to two or more of the questions, then there is an 85% chance they could have joint hypermobility.

• #19 Joint Hypermobility Syndrome: Symptoms, Causes, Diagnosis & Treatments

  https://my.clevelandclinic.org/health/diseases/21763-joint-hypermobility-syndrome

  Joint hypermobility syndrome is a genetic condition that involves extreme flexibility along with pain and other symptoms. […] While theres no cure, symptoms can be managed by keeping your muscles strong and taking medication. […] Your healthcare provider may perform a physical exam to see the range of motion in your joints. They may also order blood tests to check for possible genetic conditions. […] Your healthcare provider may use a test or questionnaire to measure the flexibility of your joints. The Beighton score measures your joint flexibility on a nine-point scale. […] If you scored four or more points and have had pain in four or more joints for at least three months, you may have joint hypermobility syndrome. […] If you answered yes to two or more questions, you may have joint hypermobility syndrome. […] Joint hypermobility syndrome is diagnosed through a physical exam as well as a test or questionnaire on your flexibility.

• #20 Joint hypermobility | Causes, symptoms, treatments

  https://versusarthritis.org/about-arthritis/conditions/joint-hypermobility/

  Your doctor will be able to make a diagnosis of whether you have HSD or hEDS by asking you a series of questions, taking a family history, ruling out other conditions and examining your joints. […] In the examination your doctor will want to check how mobile your joints are and will ask you questions such as while standing can you put your hands flat on the ground with your knees straight? This is to work out how flexible you are. […] Depending on the outcome of these tests you may receive a diagnosis of Hypermobility Spectrum Disorder or EhlersDanlos syndrome.

• #21 hEDS and HSD diagnosis by clinical assessment

  https://www.edhs.info/heds-and-hsd-diagnosis-by-clinical-assessment

  Initial diagnosis by clinical evaluation – hypermobile Ehlers-Danlos syndrome. […] Diagnosis for hypermobile Ehlers-Danlos syndrome is carried out by clinical evaluation. […] The pathway to EDS/HSD diagnosis starts with a physical examination, using the Beighton Scale to assess how mobile joints are, a search for abnormal scarring and testing the skin to determine what it feels like and how much it stretches, as well as any additional tests the physician feels are needed. […] The 2017 International Criteria for hEDS (incorporating the Beighton Score for generalised joint hypermobility) has been laid out below in Box 2. […] This criteria is based on an international consensus between hEDS experts. […] Please note that, when using the Beighton Score to diagnose generalised joint hypermobility, several additional points need to be taken into consideration.

• #22 Joint Hypermobility Syndrome Causes, Symptoms, Test, Treatment

  https://www.medicinenet.com/hypermobility_syndrome/article.htm

  How is joint hypermobility syndrome diagnosed? Joint hypermobility syndrome is diagnosed by examining affected joints and noting that they move easily beyond the normal range expected. For example, the middle of the fingers may bend backward more than usual. There is no blood test for hypermobility syndrome. […] Doctors who treat hypermobility syndrome include general-medicine doctors, family medicine doctors, and internists, as well as rheumatologists, orthopedists, and physical-medicine physicians.

• #23 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  Obtaining an official diagnosis of Ehlers-Danlos Syndrome (EDS) can be a detailed process, requiring a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing. […] Start by compiling a detailed medical history, including any symptoms of joint hypermobility, skin elasticity, easy bruising, and other EDS-related symptoms you’ve experienced. […] A specialist will conduct a thorough clinical evaluation, which may include: […] The 2017 International Classification for the Ehlers-Danlos Syndromes proposes specific criteria for diagnosing different types of EDS. For hEDS, the criteria include generalized joint hypermobility, systemic manifestations of a more generalized connective tissue disorder, and a family history, among others. Your specialist will evaluate whether your symptoms meet the criteria for an EDS diagnosis.

• #24 RheumaKnowledgy » Hypermobility Syndrome

  https://www.rheumaknowledgy.com/hypermobility-syndrome/

  Hypermobility Syndrome […] Definition: The term hypermobility syndrome, coined by Ansell and Bywaters in 1967, denotes joint symptoms associated with excessive joint laxity, often in individuals with a strong family history of the same. This benign disorder excludes other causes of connective tissue laxity (Ehlers-Danlos syndrome, Marfans syndrome, osteogenesis imperfecta) that may result in cutaneous, ocular, or cardiovascular complications. […] Etiology: It appears to be a genetically linked disorder of connective tissue. This is suggested by a strong family history. Family members may be asymptomatic yet exhibit the same connective tissue findings on examination. […] Demographics: Symptoms often begin in children and young adults but may persist throughout adulthood. It is most common in females (60%85%). Young women often have a history of gymnastics, ballet, dancing, and contortionism and later develop hypermobility syndrome when they resume physical activity. Older individuals can be suspected as having hypermobility syndrome with the onset of premature OA.

• #25 Joint hypermobility syndrome

  https://www.nhs.uk/conditions/joint-hypermobility-syndrome/

  You or your child may have joint hypermobility syndrome if you: […] The GP will usually test for joint hypermobility syndrome by checking the flexibility of your joints using a test called the Beighton scoring system. […] They may also refer you for a blood test or X-ray to help rule out any other conditions, like arthritis.

• #26 Hypermobility Spectrum Disorders (Joint Hypermobility Syndrome)

  https://patient.info/bones-joints-muscles/hypermobility-syndrome-leaflet

  Hypermobility spectrum disorders (HSDs) are diagnosed from the presence of a set of symptoms, or 'criteria’. These are a combination of the Beighton hypermobility score and the child or young person’s symptoms. […] The Beighton hypermobility score is a 9-point scoring system based on little fingers, thumbs, elbows, knees and trunk. It is used to assess hypermobility, using a standard set of movements of thumb and wrist, fifth finger, elbows, back and knees. […] Children with a possible HSD are usually seen by a specialist, who will examine the child and talk with them about their activities, including hobbies, physical activity and sleep. […] The doctor will use the diagnostic criteria to consider the diagnosis of HSD, and to exclude a diagnosis of EDS. […] There are no other tests; the diagnosis is based on these findings. However, if your doctor still needs to rule out other conditions like arthritis then blood tests or X-rays may be needed.

• #27 Ehlers-Danlos syndromes

  https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

  Currently, there are no tests to confirm whether someone has hEDS. […] The diagnosis is made based on a person’s medical history and a physical examination. […] If there’s a possibility you may have 1 of the rare types of EDS, the GP can refer you to your local genetics service for an assessment. […] The genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis. […] If further investigation is needed, your hospital doctor can refer you to a specialist EDS diagnostic service based in Sheffield or London see the Annabelle’s Challenge website for more information.

• #28 Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders – PubMed

  https://pubmed.ncbi.nlm.nih.gov/25821090/

  Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. […] JHS/EDS-HT is an „exclusion” diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. […] While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. […] The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. […] A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

• #29 What is HSD? – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/what-is-hsd/

  Conditions that must be ruled out for an HSD diagnosis to be given include: The types of Ehlers-Danlos syndrome, especially hEDS, Other heritable connective tissue disorders such as Marfan syndrome, osteogenesis imperfecta, Loeys-Dietz syndrome, Stickler syndrome, skeletal dysplasias, Autoimmune rheumatic connective tissue disorders such as lupus, rheumatoid arthritis, Chromosomal conditions such as Fragile X syndrome, Kabuki syndrome, Down syndrome, Neuromuscular disorders that can cause joints to become unstable, such as multiple sclerosis and myopathies. […] HSD can only be diagnosed when no other cause of a persons symptoms can be found.

• #30 Benign Joint Hypermobility Syndrome: Evaluation, Diagnosis, and Management

  https://www.degruyter.com/document/doi/10.7556/jaoa.2006.106.9.531/html?lang=en

  Benign joint hypermobility syndrome (BJHS) is a connective tissue disorder with hypermobility in which musculoskeletal symptoms occur in the absence of systemic rheumatologic disease. […] Use of the Brighton criteria facilitates the diagnosis of BJHS. […] The Brighton criteria are used to diagnose BJHS, and laboratory tests are used to distinguish BJHS from other systemic diseases. […] The Brighton criteria were developed to establish diagnostic criteria for BJHS. Using these criteria helps physicians to distinguish BJHS from other connective tissue disorders. […] Diagnosis of BJHS is one of exclusion. For patients with painful or swollen joints, it is important to rule out inflammatory, infectious, and autoimmune causes. […] Benign joint hypermobility syndrome needs to be distinguished from other disorders that share many common features, such as Marfan syndrome, EDS, and osteogenesis imperfecta. Generalized hypermobility is a common feature in all these hereditary connective tissue disorders and many features overlap, but often distinguishing features are present that enable differentiating these disorders.

• #31 The Ehlers-Danlos syndromes (EDS) GP Toolkit

  https://gptoolkit.ehlers-danlos.org/

  The old diagnosis of Joint Hypermobility syndrome (JHS) is now considered part of the spectrum of Hypermobile EDS. […] Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorised as having hEDS or HSD. […] The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. […] When suspecting EDS, always consider indications for referral, in particular, clues to rare subtypes, but this is rarely the case. Whether a patient meets the full hEDS criteria or not has no impact on management. […] This article ‘Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?’ concludes ‘JHS is poorly recognized in children with a long delay in the time to diagnosis. [This] results in poor control of pain and disruption of normal home life, schooling and physical activities. Knowledge of the diagnosis and simple interventions are likely to be highly effective in reducing the morbidity and cost to the health and social services.’

• #32 The Ehlers-Danlos syndromes (EDS) GP Toolkit

  https://gptoolkit.ehlers-danlos.org/

  The old diagnosis of Joint Hypermobility syndrome (JHS) is now considered part of the spectrum of Hypermobile EDS. […] Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorised as having hEDS or HSD. […] The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. […] When suspecting EDS, always consider indications for referral, in particular, clues to rare subtypes, but this is rarely the case. Whether a patient meets the full hEDS criteria or not has no impact on management. […] This article ‘Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?’ concludes ‘JHS is poorly recognized in children with a long delay in the time to diagnosis. [This] results in poor control of pain and disruption of normal home life, schooling and physical activities. Knowledge of the diagnosis and simple interventions are likely to be highly effective in reducing the morbidity and cost to the health and social services.’

• #33 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  For some types of EDS, genetic testing can confirm a diagnosis. This involves taking a blood sample to look for mutations in specific genes associated with EDS. However, for the most common type, Hypermobile EDS (hEDS), there is currently no genetic test available, so the diagnosis is based on clinical criteria. […] There is a general lack of awareness and expertise about EDS among healthcare professionals. Many doctors are not familiar with the latest diagnostic criteria or may only be aware of the most common manifestations, such as joint hypermobility and skin elasticity. […] For most types of EDS, there are no simple, definitive tests. While genetic testing can confirm some types of EDS, the most common type, Hypermobile EDS (hEDS), does not have a specific genetic marker identified for testing. Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

• #34 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  For some types of EDS, genetic testing can confirm a diagnosis. This involves taking a blood sample to look for mutations in specific genes associated with EDS. However, for the most common type, Hypermobile EDS (hEDS), there is currently no genetic test available, so the diagnosis is based on clinical criteria. […] There is a general lack of awareness and expertise about EDS among healthcare professionals. Many doctors are not familiar with the latest diagnostic criteria or may only be aware of the most common manifestations, such as joint hypermobility and skin elasticity. […] For most types of EDS, there are no simple, definitive tests. While genetic testing can confirm some types of EDS, the most common type, Hypermobile EDS (hEDS), does not have a specific genetic marker identified for testing. Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

• #35 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  For some types of EDS, genetic testing can confirm a diagnosis. This involves taking a blood sample to look for mutations in specific genes associated with EDS. However, for the most common type, Hypermobile EDS (hEDS), there is currently no genetic test available, so the diagnosis is based on clinical criteria. […] There is a general lack of awareness and expertise about EDS among healthcare professionals. Many doctors are not familiar with the latest diagnostic criteria or may only be aware of the most common manifestations, such as joint hypermobility and skin elasticity. […] For most types of EDS, there are no simple, definitive tests. While genetic testing can confirm some types of EDS, the most common type, Hypermobile EDS (hEDS), does not have a specific genetic marker identified for testing. Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

• #36 How do I get diagnosed with Ehlers-Danlos Syndrome? | The EDS Clinic

  https://www.eds.clinic/articles/how-to-official-eds-diagnosis

  For some types of EDS, genetic testing can confirm a diagnosis. This involves taking a blood sample to look for mutations in specific genes associated with EDS. However, for the most common type, Hypermobile EDS (hEDS), there is currently no genetic test available, so the diagnosis is based on clinical criteria. […] There is a general lack of awareness and expertise about EDS among healthcare professionals. Many doctors are not familiar with the latest diagnostic criteria or may only be aware of the most common manifestations, such as joint hypermobility and skin elasticity. […] For most types of EDS, there are no simple, definitive tests. While genetic testing can confirm some types of EDS, the most common type, Hypermobile EDS (hEDS), does not have a specific genetic marker identified for testing. Diagnosis is therefore based on clinical evaluation and meeting specific criteria, which requires a thorough and often time-consuming assessment by a knowledgeable professional.

• #37 Strides in Recognition and Management of Joint Hypermobility Syndrome – The Rheumatologist

  https://www.the-rheumatologist.org/article/function-despite-pain/

  The definition of hypermobility syndrome has broadened considerably in the last 40 years, said Rodney Grahame, MD, a consultant rheumatologist at the Hypermobility Clinics of the University College London Hospitals and at the Great Ormond Street Childrens Hospital in London. However, the condition is still under-recognized. In a group of 500 consecutive patients presenting at his London rheumatology clinic, 45% showed features of the joint hypermobility syndrome (JHS) phenotype. Based on those numbers, Dr. Grahame estimated that for every one person in England who is diagnosed by a rheumatologist as having hypermobility syndrome, there are probably 19 that arent yet diagnosed. […] The more inclusive Brighton Criteria, which feature the Beighton Score as both major and minor criteria, have been used since 1998 to assess this complex syndrome. Clinicians are also challenged to distinguish JHS from other disorders, such as osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome, which all have overlapping features. […] Underappreciation of the condition has had deleterious consequences to those who suffer from it. In 2001, Dr. Grahame found that, among 319 U.K. rheumatologists, half were skeptical about the impact of hypermobility syndrome on patients lives.

• #38 The Ehlers-Danlos syndromes (EDS) GP Toolkit

  https://gptoolkit.ehlers-danlos.org/

  The old diagnosis of Joint Hypermobility syndrome (JHS) is now considered part of the spectrum of Hypermobile EDS. […] Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorised as having hEDS or HSD. […] The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. […] When suspecting EDS, always consider indications for referral, in particular, clues to rare subtypes, but this is rarely the case. Whether a patient meets the full hEDS criteria or not has no impact on management. […] This article ‘Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?’ concludes ‘JHS is poorly recognized in children with a long delay in the time to diagnosis. [This] results in poor control of pain and disruption of normal home life, schooling and physical activities. Knowledge of the diagnosis and simple interventions are likely to be highly effective in reducing the morbidity and cost to the health and social services.’

• #39 Hypermobility syndromes in children and adolescents: Assessment, diagnosis and multidisciplinary management

  https://www1.racgp.org.au/ajgp/2022/june/hypermobility-syndromes-in-children-and-adolescent

  Diagnostic delay has serious consequences for quality of life, financial loss, unnecessary investigations, suboptimal therapies and worsening symptoms and disability. […] The GP is key to comprehensively managing a patient with symptomatic hypermobile/hEDS/HSD as their central health coordinator. Management is multidisciplinary, shared with allied health practitioners and relevant specialists.

• #40 Joint Hypermobility Syndrome: Understanding, Diagnosis, and Prolotherapy as a First-Line Treatment

  https://www.alleviatepainclinic.com/blog/unraveling-joint-hypermobility-syndrome-understanding-diagnosis-prolotherapy-as-a-first-line-treatment/

  Joint Hypermobility Syndrome (JHS) is a connective tissue disorder characterized by the excessive flexibility of the joints. […] Diagnosing Joint Hypermobility Syndrome typically involves a combination of clinical evaluation and assessment tools. Healthcare professionals may use the following approaches to diagnose JHS: […] A thorough medical history and physical examination are essential for identifying hypermobile joints and associated symptoms. The Beighton Score, which assesses joint hypermobility in specific body areas, is often used. […] The Beighton Score assesses joint hypermobility at various sites in the body. A score of 4 or more out of 9 is typically considered indicative of joint hypermobility. […] Prolotherapy is emerging as a promising first-line treatment for JHS, offering the potential to improve joint stability, reduce pain, and enhance overall quality of life. […] Early diagnosis, proper management, and the use of innovative treatments like Prolotherapy can significantly improve the quality of life for individuals with JHS.

• #41 The Ehlers-Danlos syndromes (EDS) GP Toolkit

  https://gptoolkit.ehlers-danlos.org/

  The old diagnosis of Joint Hypermobility syndrome (JHS) is now considered part of the spectrum of Hypermobile EDS. […] Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorised as having hEDS or HSD. […] The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. […] When suspecting EDS, always consider indications for referral, in particular, clues to rare subtypes, but this is rarely the case. Whether a patient meets the full hEDS criteria or not has no impact on management. […] This article ‘Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?’ concludes ‘JHS is poorly recognized in children with a long delay in the time to diagnosis. [This] results in poor control of pain and disruption of normal home life, schooling and physical activities. Knowledge of the diagnosis and simple interventions are likely to be highly effective in reducing the morbidity and cost to the health and social services.’

• #42 HSD diagnostic criteria | The HMSA

  https://www.hypermobility.org/hsddiagnostic-criteria

  Patients with HSD require the same validation and symptom-based management as individuals with hEDS or joint hypermobility syndrome (JHS) – they have the same range of potential symptoms and linked conditions. […] There is also no evidence of people meeting the hEDS criteria being more severely affected than those diagnosed as having HSD or JHS. […] This section focuses on the diagnosis of a hypermobility spectrum disorder. […] A diagnosis of asymptomatic hypermobility encourages recognition that hypermobility does not automatically mean pain, disability, and health problems. […] It is helpful for an individual to know that they have asymptomatic hypermobility so that they can proactively manage their condition and respond appropriately to other symptoms should they develop. […] There is the added benefit that should symptoms occur, unnecessary medical investigation can be prevented and time can be saved by starting from the knowledge that hypermobility could be the underlying issue.

• #43 Hypermobility syndromes in children and adolescents: Assessment, diagnosis and multidisciplinary management

  https://www1.racgp.org.au/ajgp/2022/june/hypermobility-syndromes-in-children-and-adolescent

  Diagnostic delay has serious consequences for quality of life, financial loss, unnecessary investigations, suboptimal therapies and worsening symptoms and disability. […] The GP is key to comprehensively managing a patient with symptomatic hypermobile/hEDS/HSD as their central health coordinator. Management is multidisciplinary, shared with allied health practitioners and relevant specialists.

• #44 Hypermobility – North & East

  https://northeast.devonformularyguidance.nhs.uk/referral-guidance/eastern-locality/rheumatology/hypermobility

  Hypermobility can be associated with widespread musculoskeletal pains although many people with hypermobile joints do not have musculoskeletal pain. […] The diagnosis of hypermobility and Hypermobile Ehlers Danlos Syndrome (hEDS) should take place in primary care (see The Ehlers-Danlos Syndromes Toolkit). […] There is no commissioned pathway for secondary care referral of hypermobility or suspected Hypermobile Ehlers Danlos Syndrome (hEDS). […] Hypermobility can be diagnosed clinically by testing mobility of the hands, knees, elbows, back and wrists and calculating the modified Beighton Score. […] If the score is greater than 4 and there is pain for longer than three months in four or more joints this (without synovitis*), this is consistent with hypermobility. […] The diagnosis of hypermobility and Hypermobile Ehlers Danlos Syndrome (hEDS) should take place in primary care (see The Ehlers-Danlos Syndromes Toolkit). […] It is not necessary to refer patients with hypermobility to the Rheumatology service unless you are concerned about an alternative diagnosis. […] Referral for Clinical Genetic testing is appropriate in specific sub-types of EDS (see management section).

• #45 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  Hypermobile EhlersDanlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score4 or 5/9, the cut off for GJH in adults. […] The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data.

• #46 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  Hypermobile EhlersDanlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score4 or 5/9, the cut off for GJH in adults. […] The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data.

• #47 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  Hypermobile EhlersDanlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score4 or 5/9, the cut off for GJH in adults. […] The Paediatric Working Group of the International Consortium on EDS and HSD has developed a pediatric diagnostic framework presented here. The framework has 4 components, GJH, skin and tissue abnormalities, musculoskeletal complications, and core comorbidities. A Beighton score of 6/9 best identifies children with GJH at 2 standard deviations above average, based on published general population data.

• #48 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of EhlersDanlos syndrome at any age. […] We propose that children should not be assessed with the 2017 criteria or diagnosed with hEDS until they have reached biological maturity, so a pediatric specific framework was developed. The framework supports identifying those with hypermobility as a physical trait, which is relatively common, those with musculoskeletal issues related to their hypermobility, and those who may develop the rarer hypermobile EhlersDanlos syndrome as they mature. […] The agreed minimum age at which GJH should be assessed, including comparison to age and sex specific reference data, was 5 years old as infants and toddlers have insufficient bony maturity for clinically meaningful assessment.

• #49 Pediatric joint hypermobility: a diagnostic framework and narrative review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02717-2

  hEDS is reserved for biologically mature adolescents who meet the 2017 criteria, which also covers even rarer types of EhlersDanlos syndrome at any age. […] We propose that children should not be assessed with the 2017 criteria or diagnosed with hEDS until they have reached biological maturity, so a pediatric specific framework was developed. The framework supports identifying those with hypermobility as a physical trait, which is relatively common, those with musculoskeletal issues related to their hypermobility, and those who may develop the rarer hypermobile EhlersDanlos syndrome as they mature. […] The agreed minimum age at which GJH should be assessed, including comparison to age and sex specific reference data, was 5 years old as infants and toddlers have insufficient bony maturity for clinically meaningful assessment.

• #50 Hypermobility Spectrum Disorders (Hypermobility Syndrome) | Above and Beyond Therapy

  https://www.abtaba.com/blog/hypermobility-spectrum-disorders

  When it comes to diagnosing hypermobility spectrum disorders (HSD), healthcare professionals employ various methods to assess joint hypermobility, associated symptoms, and potential underlying genetic conditions. The diagnostic process typically involves a physical examination, the use of scoring systems, and, in some cases, blood tests and genetic evaluations. […] A physical examination is an essential component of diagnosing hypermobility spectrum disorders. During this examination, a healthcare provider assesses joint flexibility, skin condition, and other medical symptoms. They may use the Beighton Score, a tool that measures generalized joint hypermobility on a 9-point scale. In adults, a positive score is any score greater than or equal to 5/9 points. However, it’s important to note that a high Beighton Score alone is not sufficient for a diagnosis. It is part of a comprehensive assessment that considers other factors and symptoms.

• #51 Hypermobility Syndrome: Causes, Symptoms, and Treatment

  https://patient.info/doctor/hypermobility-syndrome-pro

  Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterised by joint instability, chronic pain, and minor skin changes. […] Diagnosis is clinical, using the widely accepted Brighton criteria. These combine the Beighton hypermobility score (first developed to quantify joint laxity in Ehlers-Danlos syndrome) with symptoms. There are no confirming genetic or biochemical tests. […] The Beighton hypermobility score is a 9-point scoring system to quantify joint laxity and hypermobility. A higher score equates to higher joint laxity. The threshold for joint laxity in a young adult is 4-6, with scores above 4 correlating well with pain levels in patients diagnosed with benign joint hypermobility syndrome. […] Diagnosis of benign joint hypermobility syndrome requires two major criteria or one major and two minor, in the absence of diagnosed Ehlers-Danlos or Marfan’s syndromes. Two minor criteria are considered enough for diagnosis if there is a clearly affected first-degree relative. […] These accepted diagnostic criteria incorporate the Beighton scoring system, in combination with the presence of persistent symptoms.

• #52 Hypermobility Spectrum Disorders (Hypermobility Syndrome) | Above and Beyond Therapy

  https://www.abtaba.com/blog/hypermobility-spectrum-disorders

  It’s important to note that the diagnosis of hypermobility spectrum disorders can evolve over time as individuals may develop new symptoms or meet the criteria for a different condition, such as hypermobile Ehlers-Danlos syndrome (EDS). Regular follow-up with healthcare professionals is crucial to monitor any changes in symptoms and ensure an accurate diagnosis and appropriate management. […] The diagnostic process for hypermobility spectrum disorders involves a comprehensive evaluation, considering physical examination findings, scoring systems, and, if necessary, additional tests to rule out other conditions and identify potential genetic factors. This multidimensional approach helps healthcare professionals make an accurate diagnosis and provide appropriate care for individuals with hypermobility spectrum disorders.

• #53 Joint Hypermobility Syndrome: Understanding, Diagnosis, and Prolotherapy as a First-Line Treatment

  https://www.alleviatepainclinic.com/blog/unraveling-joint-hypermobility-syndrome-understanding-diagnosis-prolotherapy-as-a-first-line-treatment/

  Joint Hypermobility Syndrome (JHS) is a connective tissue disorder characterized by the excessive flexibility of the joints. […] Diagnosing Joint Hypermobility Syndrome typically involves a combination of clinical evaluation and assessment tools. Healthcare professionals may use the following approaches to diagnose JHS: […] A thorough medical history and physical examination are essential for identifying hypermobile joints and associated symptoms. The Beighton Score, which assesses joint hypermobility in specific body areas, is often used. […] The Beighton Score assesses joint hypermobility at various sites in the body. A score of 4 or more out of 9 is typically considered indicative of joint hypermobility. […] Prolotherapy is emerging as a promising first-line treatment for JHS, offering the potential to improve joint stability, reduce pain, and enhance overall quality of life. […] Early diagnosis, proper management, and the use of innovative treatments like Prolotherapy can significantly improve the quality of life for individuals with JHS.

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